Disease relevance of ATP1BL1

• The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene [1].
• 3. On yeast artificial chromosomes from this region we have identified a sequence, similar to that coding for the proposed copper binding regions of the putative ATPase gene (MNK) defective in Menkes disease [1].
• A T-->G transversion at nt 8993 in mitochondrial DNA of MTATP6 (encoding ATPase 6 of complex V of the respiratory chain) causes impaired mitochondrial ATP synthesis in two related mitochondrial disorders: neuropathy, ataxia and retinitis pigmentosa and maternally inherited Leigh syndrome [2].
• We showed the entrance of DNAase I inside the cell by dose-dependent cytotoxicity; and the entrance of DNAase I into the nucleus by the induction of chromosomal aberrations and somatic mutation at the HPRT locus (but not at the Na+/K+ ATPase locus) [3].
• A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis [4].

Psychiatry related information on ATP1BL1

• We demonstrate that the insertion of the B2 sequence reduces the motor activity of Dictyostelium myosin II, with reduction of the maximal actin-activated ATPase activity and a decrease in the affinity for actin [5].
• A deletion in MDR1 (Delta amino acids 78-97), which alters the substrate stimulation of its ATPase activity, similarly alters the drug dependence of nucleotide trapping [6].
• In this study we have investigated the Darier's disease gene ATP2A2, the calcium pumping ATPase SERCA2, as a potential susceptibility gene for bipolar disorder under the hypothesis that variations in SERCA2 have pleiotropic effects in brain [7].
• On the average, the Mg2+ ATPase activity was high in subjects belonging to affective disorder families [8].
• CI-ATPase and Na+/K(+)-ATPase activities in Alzheimer's disease brains [9].

High impact information on ATP1BL1

• Energy interconversion by the Ca2+-dependent ATPase of the sarcoplasmic reticulum [10].
• Later sections of the review expand on this material with special emphasis on the substrates of P-glycoprotein and how they cross the cell membrane, on the transport kinetics of the P-glycoprotein, on reversers of its action, and on its activity as an ATPase [11].
• Relationships of molecular structure and function in Ca2(+)-transport ATPase [12].
• Despite reports suggesting a potential role in membrane fusion, the V(0) subunit of the (+)H/ATPase has remained an unlikely candidate for the fusion pore [13].
• These missense and frameshift mutations mapped to evolutionarily conserved domains adjacent to the catalytic ATPase pocket within SUR2A [14].

Chemical compound and disease context of ATP1BL1

• The response was pertussis toxin-sensitive but did not involve inhibition of adenylate cyclase, as stimulation of Na+/K+ ATPase by 5-HT was observed in the presence of excess dibutyryl cAMP [15].
• CodWX in Bacillus subtilis is an ATP-dependent, N-terminal serine protease, consisting of CodW peptidase and CodX ATPase [16].
• Based on a new crystal structure of the NH2-terminal domain of human Hsp90 with bound ADP-Mg and on the structural homology of this domain with the ATPase domain of Escherichia coli DNA gyrase, the residues of Hsp90 critical in ATP binding (D93) and ATP hydrolysis (E47) were identified [17].
• Four major volume hormones may be involved in human hypertension: aldosterone, arginine vasopressin, inhibitors of NA+/K+ ATPase activity, and the natriuretic factor from specific granules of atrial cardiocytes [18].
• In vitro incubation of normal and G6PD-deficient erythrocytes with divicine, a pyrimidine aglycone present in fava beans and strongly implicated in the pathogenesis of favism, reproduces most of these events, including drop of calcium ATPase, increased intracellular calcium, and leakage of erythrocyte potassium [19].

Biological context of ATP1BL1

• One class of clones, designated ATP1BL1, represents a processed pseudogene for the beta subunit [20].
• RFLPs for ATP1BL1 (beta subunit Na+/K+ ATPase pseudogene) on chromosome 4 [21].
• Thus, channel activity could be regulated by two different enzymatic reactions, ATPase and adenylate kinase, that share a common ATP binding site in the second nucleotide binding domain [22].
• Antibodies against synthetic peptides reveal that the unidentified reading frame A6L, overlapping the ATPase 6 gene, is expressed in human mitochondria [23].
• In this issue of Cell, Matsushita et al. report that in aortic endothelial cells, S-nitrosylation of NSF, an ATPase essential for the activation of the membranefusion machinery, inhibits the exocytosis of Weibel-Palade bodies, secretory granules containing a cocktail of mediators essential to the regulation of vascular vessel tone [24].

Anatomical context of ATP1BL1

• Chronic phospholamban-sarcoplasmic reticulum calcium ATPase interaction is the critical calcium cycling defect in dilated cardiomyopathy [25].
• All of these movements may be driven by a single, soluble ATPase that binds reversibly to organelles, beads, or glass and generates a translocating force on a microtubule [26].
• PAF-2 is a member of a putative ATPase family, including two yeast gene products essential for peroxisome assembly [27].
• One of these proteins, 71 kd, has previously been identified as uncoating ATPase, an enzyme that releases clathrin from coated vesicles [28].
• Dynein arms, which project from each peripheral microtubule and possess ATPase activity, interact with a neighbouring doublet and undergo conformational changes which induce sliding [29].

Associations of ATP1BL1 with chemical compounds

• Restoration by KCl was blocked by ouabain, indicating that uptake via the Na+/K+ ATPase was required [30].
• Vanadate inhibits the red cell (Na+, K+) ATPase from the cytoplasmic side [31].
• We found that glucagon(19-29), which is totally ineffective in activating adenylate cyclase, inhibited both the Ca2+-activated and Mg2+-dependent ATPase activity [Ca2+-Mg2+) ATPase) and Ca2+ transport in liver plasma membranes with an efficiency 1,000-fold higher than that of glucagon [32].
• This ATPase activity is inhibited in a dose-dependent manner by addition of Mg-free ATP, by chelation of Mg2+ with EDTA, by addition of Na3VO4, or by addition of AMPPNP with or without Mg2+ [33].
• Orthovanadate is an inhibitor of (Na+ + K+) ATPase and the red cell Ca2+-ATpase [34].

Other interactions of ATP1BL1

• The second class, designated ATP1B, includes 15 overlapping genomic clones and represents a functional gene for the human Na,K-ATPase beta subunit [20].

Analytical, diagnostic and therapeutic context of ATP1BL1

• A total of 29 human genomic DNA clones that hybridize with cDNAs for the sheep and rat Na,K-ATPase beta subunits have been isolated, classified by restriction endonuclease mapping and Southern blot hybridization analysis, and sequenced [20].
• We report X-ray solution scattering and electron microscopy structures of the activated, full-length nitrogen-regulatory protein C (NtrC) showing a novel mechanism for regulation of AAA+ ATPase assembly via the juxtaposition of the receiver domains and ATPase ring [35].
• Antibody directed against a 21-mer peptide in the ATP binding region of beta-H+ ATPase (anti-beta) reacted with only one band on Western blots of whole tumor extracts and tumor membrane extracts suggesting that the antiserum reacts with a single species of protein [36].
• Isolation of a microsomal fraction from human gastric mucosa followed by density gradient centrifugation yielded a vesicular membrane preparation free of mitochondrial markers, containing a K+-activated, ouabain-insensitive ATPase with an activity of 20.7 mumol P1 released/mg protein per h [37].
• Finally, recent biochemical dissection of the ATPase cycle and its coupling to protein unfolding has revealed fundamental operating principles of this important, ubiquitous family of molecular machines [38].

References